Compound heterozygous mutations in ADSL gene in a patient with autism spectrum disorder and epilepsy

Abstract

Adenylosuccinate lyase (ADSL) deficiency is an inherited metabolic disorder that is classified into three categories with specific age of onset and severity of symptoms, namely fatal neonatal form, type I and type II. In our study, one Turkish client, with the clinical diagnosis of epilepsy, which presented with autism spectrum symptoms, generalized seizures, psychomotor retardation, slowing of thought and physical movement, muscle weakness and speech problems, was sequenced by whole exome sequencing (WES). Subsequently, a standard interpretation of the identified variants was performed referring to the recently updated guidelines. Finally, we identified two variants (NM_000026:exon12:c.C1354T:p.R452C and NM_000026:exon9:c.G1010A: p.R337Q) in ADSL gene. In summary, our findings suggested possible role of these variants as the underlying cause of ADSL deficiency.